Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees
E. K. Nikoskelainen, M. L. Savontaus, O. P. Wanne, M. J. Katila and K. U. Nummelin
Previous genealogic studies of Leber's disease have focused on affected
individuals with optic atrophy. Despite its diagnostic importance,
peripapillary microangiopathy has not been widely recognized. In our study,
the genealogic evaluation includes asymptomatic subjects with
microangiopathy. Another new aspect is a genealogic analysis of the
cardiovascular abnormalities found in members of families with Leber's
disease. Our results suggest that every daughter and son of a female
carrier inherits the trait, thus satisfying the criteria for a maternally
inherited disease. Microangiopathy, without optic nerve dysfunction,
probably represents the mildest stage of the disease. The high frequency of
electrocardiographic abnormalities in the off-spring of the female carriers
suggests an important link with Leber's disease.
